Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2024-03-09 DOI:10.1002/gcc.23230

Larissa V. Furtado, Maria Cardenas, Teresa Santiago, Robert E. Ruiz, Zonggao Shi, Alberto Pappo, Marija Kacar

引用次数: 0

Abstract

Childhood melanoma is a rare and biologically heterogeneous pediatric malignancy. The differential diagnosis of pediatric melanoma is usually broad, including a wide variety of spindle cell or epithelioid neoplasms. Different molecular alterations affecting the MAPK and PI3K/AKT/mTOR pathways, tumor suppressor genes, and telomerase reactivation have been implicated in melanoma tumorigenesis and progression. Here, we report a novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and an aggressive clinical course.

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小儿黑色素瘤中的新型MED15::ATF1融合，具有spitzoid特征和侵袭性表现。

儿童黑色素瘤是一种罕见的生物异质性儿科恶性肿瘤。小儿黑色素瘤的鉴别诊断范围通常很广，包括各种纺锤形细胞或上皮样肿瘤。影响 MAPK 和 PI3K/AKT/mTOR 通路、肿瘤抑制基因和端粒酶再激活的不同分子改变已被认为与黑色素瘤的肿瘤发生和发展有关。在此，我们报告了一种新型 MED15::ATF1 融合型小儿黑色素瘤，这种黑色素瘤具有穗状特征和侵袭性临床病程。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.